The United States Food and Drug Administration (FDA) has recently released two draft guidance documents on the use of high-throughput DNA sequencing (also known as ‘next generation sequencing’ or NGS) in precision medicine. The guidance, which is open to public comment, provides recommendations for standardising NGS tests for germline diseases. Given that entry and sustainability in the global life sciences market - particularly in the field of precision medicine - requires a coordinated approach that includes the consideration of regulatory requirements as well as intellectual property clearance and protection strategies, the guidance once finalised may prove to benefit companies operating in this market.

‘Precision medicine’ can have different meanings depending on where you look. Broadly speaking it is about customising patient healthcare by selecting appropriate and optimal therapies based on genetic and/or other relevant information. The advent of high-throughput DNA sequencing (also known as ‘next generation sequencing’) and big data analysis techniques have accelerated the field bringing clinical outcomes for diseases such as cancer and diabetes closer and faster than ever before.

So significant is the promise of precision medicine to improve health care that the United State’s President Obama unveiled the Precision Medicine Initiative (PMI) in his January 2015 State of the Union Address. The focus of the PMI is to leverage advances in genomics, big data analysis and health information technology to accelerate biomedical discoveries. The US National Institutes of Health (NIH) is the main driver in the implementation of the PMI, particularly with the establishment of a longitudinal study of more than a million American volunteers from whom health data is to be collected over many years.

The mandate of the US FDA, much like the Australian equivalent Therapeutic Goods Administration (TGA), is to protect and promote public health through regulation and supervision. To this point, the FDA’s draft guidance aims to provide a regulatory framework such that the results of NGS-based tests can be fully exploited to derive the best clinical outcomes.

The first of the draft guidance documents issued by the FDA entitled “Use of Standards in FDA Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases” [PDF 707KB] provides recommendations on how to design, develop and validate a NGS-based test.

The second document, entitled “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics” [PDF 498KB] provides guidance on the use of standards in aggregating, curating and interpreting clinical associations of genotype and phenotype in publicly accessible ‘genetic variant’ databases.

Assuming that the FDA’s guidance is accepted by the precision medicine community, and its recommendations adopted not only in the US but globally, this may beneficially reduce the regulatory burden faced by businesses operating in this market.

In recent times(1), Courts in Australia and the US have thrown up hurdles concerning patent eligibility requirements for biotechnological and computer software inventions, which have the capacity to impact the ability to obtain patents for precision medicine therapies in these jurisdictions. While the situation is not the same in Europe, the protection of precision medicine therapies is made difficult by the fact that patent claims directed to methods of treatment are prohibited under European patent law (albeit that other forms of patent claims such as Swiss-style claims can be used to provide an alternate means for protection).

The point, which most in the field already know, is that the variation in patentability requirements across different jurisdictions undoubtedly adds to the cost of prosecuting patent applications for life science inventions. This is unavoidable. It is at least the case, however, that implementing standards for NGS-based tests and NGS-derived databases may ultimately alleviate some of that cost burden.